Linked Data
dbSNP Id:
rs753971450
gnomAD v4:
1-1512319-G-C
MyVariant Identifiers:
chr1:g.1447699G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1512319G>C , CM000663.2:g.1512319G>C | GRCh38 |
| NC_000001.10:g.1447699G>C , CM000663.1:g.1447699G>C | GRCh37 |
| NC_000001.9:g.1437562G>C | NCBI36 |
| NG_053035.1:g.5177G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378756.8:c.51G>C MANE Select | ENSP00000368031.3:p.Gly17= | |
| ENST00000672388.1:n.155G>C | ||
| ENST00000378755.9:c.51G>C | ENSP00000368030.5:p.Gly17= | |
| ENST00000378756.7:c.51G>C | ENSP00000368031.3:p.Gly17= | |
| NM_001170535.1:c.51G>C | NP_001164006.1:p.Gly17= | |
| NM_018188.3:c.51G>C | NP_060658.3:p.Gly17= | |
| NM_001170535.2:c.51G>C | NP_001164006.1:p.Gly17= | |
| NM_018188.4:c.51G>C | NP_060658.3:p.Gly17= | |
| XM_024448098.1:c.51G>C | XP_024303866.1:p.Gly17= | |
| XR_001737282.1:n.177G>C | ||
| XR_002956997.1:n.177G>C | ||
| NM_001170535.3:c.51G>C MANE Select | NP_001164006.1:p.Gly17= | |
| NM_018188.5:c.51G>C | NP_060658.3:p.Gly17= |